GM04777

GM04777 Fibroblast

Description:

HUNTINGTON DISEASE; HD

Affected:

Yes

Sex:

Male

Age:

53 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Venezuelan Huntington Disease
Heritable Diseases

Class

Disorders of the Nervous System

Class

Disorders with Trinucleotide Expansions

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

maternal cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Code 608; clinically affected; expired in 1982; affected son is GM04737; see GM04776B Lymphoid

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Code 608; clinically affected; expired in 1982; affected son is GM04737; see GM04776B Lymphoid

Publications

Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994

PubMed ID: 7847674

Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994

PubMed ID: 8290560

Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993

PubMed ID: 8367484

Sumbilla C, Lakowicz JR, Evidence for normal fibroblast cell membranes from individuals with Huntington's disease. A fluorescence probe study. J Neurol Sci62:23-40 1983

PubMed ID: 6230415